Wilson Disease ATP7B Gene Mutation Detection Test
Introduction to the Test
The Wilson Disease ATP7B Gene Mutation Detection Test is a critical diagnostic tool for identifying Wilson’s disease, a genetic disorder that leads to the accumulation of copper in the body, affecting various organs including the liver and brain. Early detection through this test is vital for effective management and treatment, preventing severe complications associated with the disease.
What the Test Measures
This test specifically detects mutations in the ATP7B gene, which is responsible for copper transport in the body. By identifying these mutations, healthcare providers can confirm a diagnosis of Wilson’s disease and assess the risk of developing related health issues.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Unexplained liver disease
- Neurological symptoms (tremors, difficulty speaking)
- Psychiatric symptoms (mood swings, personality changes)
Those with a family history of Wilson’s disease or related genetic disorders should also consider this test, as they may be at higher risk.
Benefits of Taking the Test
- Early diagnosis allows for timely treatment, reducing the risk of severe complications.
- Guides treatment decisions and management strategies for affected individuals.
- Provides valuable information for family planning and genetic counseling.
Understanding Your Results
Results from the Wilson Disease ATP7B Gene Mutation Detection Test will indicate the presence or absence of mutations in the ATP7B gene. A positive result confirms the diagnosis of Wilson’s disease, while a negative result suggests that the individual may not have the condition. However, further clinical evaluation may still be necessary.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Wilson Disease ATP7B Gene Mutation Detection Test | 117936 KSh | 131040 KSh |
Sample Requirements
The sample required for this test is 4 mL (2 mL min.) whole blood collected in a Lavender Top (EDTA) tube. It should be shipped refrigerated and must not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Turnaround Time
Samples should be submitted by 11 AM daily for processing, with results typically available within 2 months.
Convenience Across Kenya
DNA Labs Kenya has branches in all major cities, making it easy for you to access this important test. We also offer home sample collection services for your convenience.
Book Your Test Today!
Don’t wait until it’s too late. Book the Wilson Disease ATP7B Gene Mutation Detection Test today by calling or sending a WhatsApp message to +254711564616. Your health is our priority!
